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Complement factor H R1210C among Japanese patients with age-related macular degeneration
Masahiro Miyake1, Masaaki Saito2, Kenji Yamashiro3
1Department of Ophthalmology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Insights
The complement factor H (CFH) R1210C variant is rare in Japanese patients with age-related macular degeneration (AMD). One AMD patient with this variant presented with polypoidal choroidal neovasculopathy but no drusen.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Age-related macular degeneration (AMD) is a leading cause of vision loss.
- Genetic factors, including variants in the complement factor H (CFH) gene, influence AMD risk.
- The CFH R1210C variant's prevalence in Asian populations, particularly Japanese, remains largely uncharacterized.
Observation:
- A cohort of 1364 Japanese patients with neovascular AMD was screened for the CFH R1210C variant (rs121013059).
- The CFH R1210C variant was identified in only one patient (0.037% MAF), who had polypoidal choroidal neovasculopathy (PCV).
- No instances of the CFH R1210C variant were detected in 1208 Japanese control individuals (0% MAF).
Findings:
- The CFH R1210C variant is exceedingly rare in the Japanese population with AMD.
- The sole identified carrier presented with PCV, a subtype of AMD, and notably lacked drusen.
- This suggests a potential, albeit rare, association between CFH R1210C and the PCV phenotype in Japanese individuals.
Implications:
- The rarity of CFH R1210C in Japanese AMD patients underscores the need for ethnicity-specific genetic studies.
- Further research using next-generation sequencing is warranted to investigate the role of rare variants in AMD pathogenesis across diverse ethnic groups.
- Understanding ethnic variations in AMD susceptibility genes is crucial for developing targeted diagnostic and therapeutic strategies.
Purpose:
To evaluate the genotype distribution of a rare age-related macular degeneration (AMD)-susceptibility variant, complement factor H (CFH) R1210C, among a large Japanese cohort with AMD.
Methods:
One thousand three hundred and sixty-four Japanese patients with neovascular AMD were evaluated. We screened for CFH R1210C (rs121913059) by genotyping with the Taqman method; the mutation was confirmed by Sanger sequencing. We also searched for this mutation in the human genome variant database, which contains the whole-exome sequencing data for 1208 Japanese individuals. The detailed characteristics of patients with this mutation were reviewed.
Results:
The mean age of the patients was 74.5 years (standard deviation 8.7); men accounted for 71.8 % of the patients. The CFH R1210C variant was found in only 1 of the 1364 AMD patients, and was heterozygous (minor allele frequency (MAF) = 0.037 %); it was not found in any of the 1208 individuals in the control group (MAF = 0 %). The patient with CFH R1210C was a 70-year-old woman whose main complaint was visual loss in the right eye. Dilated fundus examination, optical coherence tomography, and fluorescein and indocyanine angiography revealed polypoidal choroidal neovasculopathy (PCV), but no drusen in either eye. Despite treatment, her visual acuity had decreased to 1/50 by 6.8 years after her first visit.
Conclusions:
The CFH R1210C variant was found to be rare among Japanese patients with AMD. The patient with the mutation did have the PCV subtype, but no drusen formation. Considering their ethnicity-specific nature, such rare variants should be studied by use of next-generation sequencing for each ethnicity.
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